Linked Data
ClinVar Variation Id:
498927
dbSNP Id:
rs763685410
ExAC:
2:179425137 G / A
gnomAD v2:
2-179425137-G-A
gnomAD v4:
2-178560410-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178560410G>A , CM000664.2:g.178560410G>A | GRCh38 |
| NC_000002.11:g.179425137G>A , CM000664.1:g.179425137G>A | GRCh37 |
| NC_000002.10:g.179133383G>A | NCBI36 |
| NG_011618.3:g.275393C>T , LRG_391:g.275393C>T | |
| NG_051363.1:g.42584G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.78018C>T (TTN) | ENSP00000343764.6:p.Pro26006= | |
| ENST00000342175.11:c.59103C>T (TTN) | ENSP00000340554.6:p.Pro19701= | |
| ENST00000359218.10:c.58902C>T (TTN) | ENSP00000352154.5:p.Pro19634= | |
| ENST00000342175.10:c.59103C>T (TTN) | ENSP00000340554.6:p.Pro19701= | |
| ENST00000342992.10:c.78018C>T (TTN) | ENSP00000343764.6:p.Pro26006= | |
| ENST00000359218.9:c.58902C>T (TTN) | ENSP00000352154.5:p.Pro19634= | |
| ENST00000460472.6:c.58527C>T (TTN) | ENSP00000434586.1:p.Pro19509= | |
| ENST00000589042.5:c.85722C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro28574= | |
| ENST00000591111.5:c.80799C>T (TTN) | ENSP00000465570.1:p.Pro26933= | |
| ENST00000615779.4:c.80799C>T (TTN) | ENSP00000483597.1:p.Pro26933= | |
| NM_001256850.1:c.80799C>T (TTN) | NP_001243779.1:p.Pro26933= | |
| NM_001267550.2:c.85722C>T (TTN) MANE Select | NP_001254479.2:p.Pro28574= | |
| NM_003319.4:c.58527C>T (TTN) | NP_003310.4:p.Pro19509= | |
| NM_133378.4:c.78018C>T (TTN) | NP_596869.4:p.Pro26006= | |
| NM_133432.3:c.58902C>T (TTN) | NP_597676.3:p.Pro19634= | |
| NM_133437.4:c.59103C>T (TTN) | NP_597681.4:p.Pro19701= | |
| NR_038271.1:n.447-10890G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+18049G>A (TTN-AS1) | ||
| XM_011511729.1:c.84819C>T (TTN) | XP_011510031.1:p.Pro28273= | |
| XM_011511730.1:c.58713C>T (TTN) | XP_011510032.1:p.Pro19571= | |
| XM_011511731.1:c.58572C>T (TTN) | XP_011510033.1:p.Pro19524= | |
| XM_017004819.1:c.84615C>T (TTN) | XP_016860308.1:p.Pro28205= | |
| XM_017004820.1:c.80013C>T (TTN) | XP_016860309.1:p.Pro26671= | |
| XM_017004821.1:c.80010C>T (TTN) | XP_016860310.1:p.Pro26670= | |
| XM_017004822.1:c.77052C>T (TTN) | XP_016860311.1:p.Pro25684= | |
| XM_017004823.1:c.58668C>T (TTN) | XP_016860312.1:p.Pro19556= | |
| XM_024453094.1:c.80163C>T (TTN) | XP_024308862.1:p.Pro26721= | |
| XM_024453095.1:c.80160C>T (TTN) | XP_024308863.1:p.Pro26720= | |
| XM_024453096.1:c.79593C>T (TTN) | XP_024308864.1:p.Pro26531= | |
| XM_024453097.1:c.76935C>T (TTN) | XP_024308865.1:p.Pro25645= | |
| XM_024453098.1:c.76854C>T (TTN) | XP_024308866.1:p.Pro25618= | |
| XM_024453099.1:c.58617C>T (TTN) | XP_024308867.1:p.Pro19539= | |
| XM_024453100.1:c.48471C>T (TTN) | XP_024308868.1:p.Pro16157= |